NOL6

Chr 9

nucleolar protein 6

Also known as: NRAP, UTP22, bA311H10.1

NCBI Gene: 65083 ENSG00000165271 UniProt: Q9H6R4 OMIM: 611532

The NOL6 protein is a nucleolar RNA-associated protein that participates in ribosome biogenesis as part of the small subunit processome, working to process nascent pre-rRNA through folding, modifications, and cleavage. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy. This gene is highly constrained against loss-of-function mutations, indicating its critical importance for normal cellular function.

OMIM ResearchSummary from RefSeq, UniProt

The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted